Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Hildegard Nikki Hall"'
Autor:
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Publikováno v:
Molecular Systems Biology, Vol 20, Iss 7, Pp 825-844 (2024)
Abstract Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combine
Externí odkaz:
https://doaj.org/article/46f6b432ee554b1bbff01429fb10cdbb
Autor:
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (wit
Externí odkaz:
https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b
Publikováno v:
Burgess, F R, Hall, H N & Megaw, R 2022, ' Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease ', Asia-Pacific Journal of Ophthalmology, vol. 11, no. 4, pp. 380-391 . https://doi.org/10.1097/APO.0000000000000545
Genetic eye diseases, representing a wide spectrum of simple and complex conditions, are one of the leading causes of visual loss in children and working adults, and progress in the field has led to changes in disease investigation, diagnosis, and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::136497eb01afb9686a8f243637250929
https://www.pure.ed.ac.uk/ws/files/344781639/Emerging_Gene_Manipulation_Strategies_for_the.9.pdf
https://www.pure.ed.ac.uk/ws/files/344781639/Emerging_Gene_Manipulation_Strategies_for_the.9.pdf
Autor:
Vladana Vukojević, Hildegard Nikki Hall, Ana Lima, Kassiani Skouloudaki, Dimitrios K. Papadopoulos, Julia M. T. Auer, Ioannis Christodoulou, Jack J. Stoddart
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 12 (2020)
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms
article-version (VoR) Version of Record
Transcription factors (TFs) are life-sustaining and, therefore, the subject of intensive research. By regulating gene expression, TFs control a plethora of developmental and physiological processes, and their abnormal function commonly leads to vario
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5f61a51fd3dc131b52864e7e06f54e
https://doi.org/10.1242/dmm.046516
https://doi.org/10.1242/dmm.046516
Publikováno v:
The British journal of ophthalmology. 102(9)
Background/AimsThis study quantifies the threat to vision and the survival in patients presenting with peripheral ulcerative keratopathy (PUK) corneal perforation associated with rheumatoid arthritis (RA) in the UK.MethodsNew cases of corneal perfora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50223ecc05c8a8f0e40ba63158eaa580
https://pubmed.ncbi.nlm.nih.gov/29246891
https://pubmed.ncbi.nlm.nih.gov/29246891
Autor:
McDonnell, Alexander F1 (AUTHOR), Plech, Marcin1 (AUTHOR), Livesey, Benjamin J1 (AUTHOR), Gerasimavicius, Lukas1 (AUTHOR), Owen, Liusaidh J1 (AUTHOR), Hall, Hildegard Nikki1 (AUTHOR), FitzPatrick, David R1 (AUTHOR), Marsh, Joseph A1 (AUTHOR), Kudla, Grzegorz1 (AUTHOR) gkudla@gmail.com
Publikováno v:
Molecular Systems Biology. Jul2024, Vol. 20 Issue 7, p825-844. 20p.
Autor:
Hall, Hildegard Nikki1 (AUTHOR), Bengani, Hemant1 (AUTHOR), Hufnagel, Robert B.2 (AUTHOR), Damante, Giuseppe3 (AUTHOR), Ansari, Morad4 (AUTHOR), Marsh, Joseph A.1 (AUTHOR), Grimes, Graeme R.1 (AUTHOR), Kriegsheim, Alex von1 (AUTHOR), Moore, David4 (AUTHOR), McKie, Lisa1 (AUTHOR), Rahmat, Jamalia5 (AUTHOR), Mio, Catia3 (AUTHOR), Blyth, Moira6 (AUTHOR), Keng, Wee Teik7 (AUTHOR), Islam, Lily8 (AUTHOR), McEntargart, Meriel9 (AUTHOR), Mannens, Marcel M.10 (AUTHOR), Heyningen, Veronica Van1 (AUTHOR), Rainger, Joe11 (AUTHOR), Brooks, Brian P.2 (AUTHOR)
Publikováno v:
PLoS ONE. 11/22/2022, Vol. 17 Issue 11, p1-21. 21p.
Autor:
Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A., Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E., Bitoun, Pierre, Kirk, Edwin P., Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R., Meynert, Alison
Publikováno v:
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p250-261, 12p
Publikováno v:
Practical Neurology; Dec2017, Vol. 17 Issue 6, p469-471, 3p, 1 Color Photograph, 1 Diagram, 1 Graph
Publikováno v:
Human Genetics; Sep2019, Vol. 138 Issue 8/9, p881-898, 18p